NM_004992.3:c.397C>T

HGVS Expressions

  • NG_007107.2:g.110697C>T
  • NM_004992.3:c.397C>T
  • NP_004983.1:p.Arg133Cys
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Genomic Location

ChrX:154031431

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

11809

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.10LebanonNAPathogenicRett SyndromeCorbani S et al. 2012 Patient with atypical Rett syndrome
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